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Results 1 - 6 of 6 for "3-methylglutaconic" aciduria type 5
  1. Dilated cardiomyopathy with ataxia syndrome 
    ... MGA type V MGA5 MGCA5 Genetic Testing Registry: 3-methylglutaconic aciduria type 5 Dilated cardiomyopathy with ataxia National Organization for Rare Disorders (NORD) ClinicalTrials.gov 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5 PubMed Davey KM, Parboosingh JS, ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  2. Costeff syndrome 
    ... Baer S. The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. Am J Med Genet B Neuropsychiatr Genet. 2015 Apr;168B(3):197-203. doi: 10.1002/ajmg.b.32296. Epub 2015 Feb 5. Citation on PubMed Wortmann SB, Duran M, Anikster ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  3. MEGDEL syndrome 
    ... hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria ... 2013 Aug 5. Citation on PubMed Tort F, Garcia-Silva MT, ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  4. SERAC1 gene 
    ... hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria ... 2013 Aug 5. Citation on PubMed Tort F, Garcia-Silva MT, ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
  5. CLPB deficiency 
    ... Organization for Rare Disorders (NORD) 3-METHYLGLUTACONIC ... and 3-methylglutaconic aciduria. J Med Genet. 2015 May;52(5):303-11. doi: 10.1136/jmedgenet-2014-102952. ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  6. OPA3 gene 
    ... B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics